Harvard Catalyst Profiles

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Michael Simpson, M.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Douroudis K, Ramessur R, Barbosa IA, Baudry D, Duckworth M, Angit C, Capon F, Chung R, Curtis CJ, Di Meglio P, Goulding JMR, Griffiths CEM, Lee SH, Mahil SK, Parslew R, Reynolds NJ, Shipman AR, Warren RB, Yiu ZZN, Simpson MA, Barker JN, Dand N, Smith CH. Differences in Clinical Features and Comorbid Burden between HLA-C*06:02 Carrier Groups in >9,000 People with Psoriasis. J Invest Dermatol. 2021 Nov 10. PMID: 34767815.
    Citations:    Fields:    
  2. Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. J Invest Dermatol. 2020 06; 140(6):1285-1288. PMID: 31790667.
    Citations: 1     Fields:    Translation:HumansCells
  3. Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JYW, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ariëns RAS, Sarig O, Sprecher E, Eskin-Schwartz M, Samlaska C, Simpson MA, Calonje E, Parsons M, McGrath JA. Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas. J Invest Dermatol. 2020 03; 140(3):624-635.e7. PMID: 31493396.
    Citations: 4     Fields:    Translation:HumansCells
  4. Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ. Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer. Cancer Epidemiol Biomarkers Prev. 2019 07; 28(7):1162-1168. PMID: 31263054.
    Citations: 6     Fields:    Translation:Humans
  5. Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA. Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica. J Invest Dermatol. 2019 12; 139(12):2550-2554.e9. PMID: 31226264.
    Citations: 2     Fields:    Translation:Humans
  6. Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, Ryten M, Koks S. Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ Parkinsons Dis. 2019; 5:8. PMID: 31123700.
    Citations: 28     
  7. Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ. Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50?years. Breast Cancer Res. 2019 05 06; 21(1):58. PMID: 31060593.
    Citations: 2     Fields:    Translation:Humans
  8. Ghurye RR, Sundaram K, Smith F, Clark B, Simpson MA, Fairbanks L, Adhya Z, Mufti GJ, Marsh JCW, Ibrahim MAA. Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). Br J Haematol. 2019 08; 186(3):e60-e64. PMID: 30924144.
    Citations: 4     Fields:    Translation:HumansCells
  9. Onoufriadis A, Nanda A, Sheriff A, Tomita K, Gomaa NS, Simpson MA, McGrath JA. Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1). JAMA Dermatol. 2019 02 01; 155(2):257-259. PMID: 30586144.
    Citations:    Fields:    Translation:Humans
  10. Dand N, Duckworth M, Baudry D, Russell A, Curtis CJ, Lee SH, Evans I, Mason KJ, Alsharqi A, Becher G, Burden AD, Goodwin RG, McKenna K, Murphy R, Perera GK, Rotarescu R, Wahie S, Wright A, Reynolds NJ, Warren RB, Griffiths CEM, Smith CH, Simpson MA, Barker JN. HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis. J Allergy Clin Immunol. 2019 06; 143(6):2120-2130. PMID: 30578879.
    Citations: 32     Fields:    Translation:Humans
  11. Petridis C, Navarini AA, Dand N, Saklatvala J, Baudry D, Duckworth M, Allen MH, Curtis CJ, Lee SH, Burden AD, Layton A, Bataille V, Pink AE, Carlavan I, Voegel JJ, Spector TD, Trembath RC, McGrath JA, Smith CH, Barker JN, Simpson MA. Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne. Nat Commun. 2018 12 12; 9(1):5075. PMID: 30542056.
    Citations: 6     Fields:    Translation:HumansCells
  12. Gray B, Tester DJ, Wong LC, Chanana P, Jaye A, Evans JM, Baruteau AE, Evans M, Fleming P, Jeffrey I, Cohen M, Tfelt-Hansen J, Simpson MA, Ackerman MJ, Behr ER. Noncardiac genetic predisposition in sudden infant death syndrome. Genet Med. 2019 03; 21(3):641-649. PMID: 30139991.
    Citations: 2     Fields:    Translation:Humans
  13. Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J. De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. Neurol Genet. 2018 Aug; 4(4):e258. PMID: 30109270.
    Citations: 10     
  14. Saklatvala JR, Dand N, Simpson MA. Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients. Hum Mutat. 2018 05; 39(5):643-652. PMID: 29460986.
    Citations: 1     Fields:    Translation:Humans
  15. Onoufriadis A, Stone K, Katsiamides A, Amar A, Omar Y, de Lange KM, Taylor K, Barrett JC, Pollok R, Hayee B, Mansfield JC, Sanderson JD, Simpson MA, Mathew CG, Prescott NJ. Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis. J Crohns Colitis. 2018 Feb 28; 12(3):321-326. PMID: 29211899.
    Citations: 6     Fields:    Translation:Humans
  16. Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504. PMID: 29478781.
    Citations: 30     Fields:    Translation:HumansCells
  17. Pullabhatla V, Roberts AL, Lewis MJ, Mauro D, Morris DL, Odhams CA, Tombleson P, Liljedahl U, Vyse S, Simpson MA, Sauer S, de Rinaldis E, Syvänen AC, Vyse TJ. De novo mutations implicate novel genes in systemic lupus erythematosus. Hum Mol Genet. 2018 02 01; 27(3):421-429. PMID: 29177435.
    Citations: 16     Fields:    Translation:HumansCells
  18. Garcia-Dios DA, Levi D, Shah V, Gillett C, Simpson MA, Hanby A, Tomlinson I, Sawyer EJ. MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours. Br J Cancer. 2018 01; 118(2):277-284. PMID: 29315289.
    Citations: 14     Fields:    Translation:HumansCells
  19. Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. Hum Mol Genet. 2017 11 01; 26(21):4301-4313. PMID: 28973304.
    Citations: 10     Fields:    Translation:Humans
  20. Tziotzios C, Ainali C, Holmes S, Cunningham F, Lwin SM, Palamaras I, Bhargava K, Rymer J, Stefanato CM, Kirkpatrick N, Vano-Galvan S, Petridis C, Fenton DA, Simpson MA, Onoufriadis A, McGrath JA. Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia. J Invest Dermatol. 2017 11; 137(11):2440-2443. PMID: 28774594.
    Citations: 3     Fields:    Translation:Humans
  21. Zabaneh D, Krapohl E, Simpson MA, Miller MB, Iacono WG, McGue M, Putallaz M, Lubinski D, Plomin R, Breen G. Fine mapping genetic associations between the HLA region and extremely high intelligence. Sci Rep. 2017 01 24; 7:41182. PMID: 28117369.
    Citations:    Fields:    Translation:Humans
  22. Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. J Invest Dermatol. 2017 05; 137(5):1176-1179. PMID: 28087452.
    Citations: 6     Fields:    Translation:Humans
  23. Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA. MAGI2 Mutations Cause Congenital Nephrotic Syndrome. J Am Soc Nephrol. 2017 May; 28(5):1614-1621. PMID: 27932480.
    Citations: 24     Fields:    Translation:Humans
  24. Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016 12 01; 99(6):1405. PMID: 27912046.
    Citations: 10     Fields:    
  25. Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis. 2017 01; 40(1):121-130. PMID: 27696117.
    Citations: 7     Fields:    Translation:HumansCells
  26. Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016 10 06; 99(4):860-876. PMID: 27693233.
    Citations: 45     Fields:    Translation:HumansCells
  27. Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D, Simpson MA. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. Am J Med Genet A. 2016 12; 170(12):3133-3137. PMID: 27642715.
    Citations: 1     Fields:    Translation:Humans
  28. Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat. 2016 11; 37(11):1157-1161. PMID: 27492651.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  29. Hsu CK, Liu L, Can PK, Kocatürk E, McMillan JR, Güngör S, Hürdogan Ö, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212. PMID: 27554337.
    Citations:    Fields:    Translation:HumansCells
  30. Woollard WJ, Pullabhatla V, Lorenc A, Patel VM, Butler RM, Bayega A, Begum N, Bakr F, Dedhia K, Fisher J, Aguilar-Duran S, Flanagan C, Ghasemi AA, Hoffmann RM, Castillo-Mosquera N, Nuttall EA, Paul A, Roberts CA, Solomonidis EG, Tarrant R, Yoxall A, Beyers CZ, Ferreira S, Tosi I, Simpson MA, de Rinaldis E, Mitchell TJ, Whittaker SJ. Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome. Blood. 2016 06 30; 127(26):3387-97. PMID: 27121473.
    Citations: 36     Fields:    Translation:HumansCells
  31. Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb; 81(2):134-6. PMID: 26547112.
    Citations: 4     Fields:    Translation:Humans
  32. Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015 Dec; 138(Pt 12):3503-19. PMID: 26510951.
    Citations: 38     Fields:    Translation:HumansCells
  33. Dand N, Schulz R, Weale ME, Southgate L, Oakey RJ, Simpson MA, Schlitt T. Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. Hum Mutat. 2015 Dec; 36(12):1135-44. PMID: 26394720.
    Citations: 3     Fields:    Translation:Humans
  34. Takeichi T, Sugiura K, Hsu CK, Tanahashi K, Takama H, Simpson MA, McGrath JA, Akiyama M. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis. J Dermatol Sci. 2015 Sep; 79(3):317-9. PMID: 26169345.
    Citations: 1     Fields:    Translation:Humans
  35. Jafri M, Wake NC, Ascher DB, Pires DE, Gentle D, Morris MR, Rattenberry E, Simpson MA, Trembath RC, Weber A, Woodward ER, Donaldson A, Blundell TL, Latif F, Maher ER. Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma. Cancer Discov. 2015 Jul; 5(7):723-9. PMID: 25873077.
    Citations: 43     Fields:    Translation:Humans
  36. Navarini AA, Simpson MA, Borradori L, Yawalkar N, Schlapbach C. Homozygous missense mutation in IL36RN in generalized pustular dermatosis with intraoral involvement compatible with both AGEP and generalized pustular psoriasis. JAMA Dermatol. 2015 Apr; 151(4):452-3. PMID: 25427108.
    Citations: 8     Fields:    Translation:Humans
  37. Prescott NJ, Lehne B, Stone K, Lee JC, Taylor K, Knight J, Papouli E, Mirza MM, Simpson MA, Spain SL, Lu G, Fraternali F, Bumpstead SJ, Gray E, Amar A, Bye H, Green P, Chung-Faye G, Hayee B, Pollok R, Satsangi J, Parkes M, Barrett JC, Mansfield JC, Sanderson J, Lewis CM, Weale ME, Schlitt T, Mathew CG. Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes. PLoS Genet. 2015 Feb; 11(2):e1004955. PMID: 25671699.
    Citations: 29     Fields:    Translation:Humans
  38. Mistry V, Bockett NA, Levine AP, Mirza MM, Hunt KA, Ciclitira PJ, Hummerich H, Neuhausen SL, Simpson MA, Plagnol V, van Heel DA. Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. PLoS One. 2015; 10(1):e0116845. PMID: 25635822.
    Citations: 4     Fields:    Translation:Humans
  39. Shakeshaft NG, Trzaskowski M, McMillan A, Krapohl E, Simpson MA, Reichenberg A, Cederlöf M, Larsson H, Lichtenstein P, Plomin R. Thinking positively: The genetics of high intelligence. Intelligence. 2015 Jan; 48:123-132. PMID: 25593376.
    Citations: 8     
  40. Kiuchi T, Ortiz-Zapater E, Monypenny J, Matthews DR, Nguyen LK, Barbeau J, Coban O, Lawler K, Burford B, Rolfe DJ, de Rinaldis E, Dafou D, Simpson MA, Woodman N, Pinder S, Gillett CE, Devauges V, Poland SP, Fruhwirth G, Marra P, Boersma YL, Plückthun A, Gullick WJ, Yarden Y, Santis G, Winn M, Kholodenko BN, Martin-Fernandez ML, Parker P, Tutt A, Ameer-Beg SM, Ng T. The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility. Sci Signal. 2014 Aug 19; 7(339):ra78. PMID: 25140053.
    Citations: 19     Fields:    Translation:HumansCells
  41. Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Germline FH mutations presenting with pheochromocytoma. J Clin Endocrinol Metab. 2014 Oct; 99(10):E2046-50. PMID: 25004247.
    Citations: 65     Fields:    Translation:Humans
  42. Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P, Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer D, English J, Munn S, Walton S, Willis C, Déret S, Voegel JJ, Spector T, Smith CH, Trembath RC, Barker JN. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Nat Commun. 2014 Jun 13; 5:4020. PMID: 24927181.
    Citations: 19     Fields:    Translation:Humans
  43. Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F. AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. Am J Hum Genet. 2014 May 01; 94(5):790-7. PMID: 24791904.
    Citations: 52     Fields:    Translation:HumansCells
  44. Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet. 2015 Feb; 23(2):224-8. PMID: 24736733.
    Citations: 23     Fields:    Translation:HumansCells
  45. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr; 46(4):326-8. PMID: 24614073.
    Citations: 76     Fields:    Translation:HumansAnimalsCells
  46. Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. J Allergy Clin Immunol. 2014 May; 133(5):1462-5, 1465.e1-5. PMID: 24373355.
    Citations: 4     Fields:    Translation:HumansAnimals
  47. Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol. 2013 Dec; 22(12):825-31. PMID: 24279917.
    Citations: 12     Fields:    Translation:HumansCells
  48. Clop A, Bertoni A, Spain SL, Simpson MA, Pullabhatla V, Tonda R, Hundhausen C, Di Meglio P, De Jong P, Hayday AC, Nestle FO, Barker JN, Bell RJ, Capon F, Trembath RC. An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element. PLoS One. 2013; 8(8):e71690. PMID: 23990973.
    Citations: 12     Fields:    Translation:HumansCells
  49. Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture? J Invest Dermatol. 2014 Feb; 134(2):580-581. PMID: 23955072.
    Citations: 1     Fields:    Translation:Humans
  50. Frousios K, Iliopoulos CS, Schlitt T, Simpson MA. Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. Genomics. 2013 Oct; 102(4):223-8. PMID: 23831115.
    Citations: 46     Fields:    Translation:HumansAnimalsCells
  51. Morgan NV, Hartley JL, Setchell KD, Simpson MA, Brown R, Tee L, Kirkham S, Pasha S, Trembath RC, Maher ER, Gissen P, Kelly DA. A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. Orphanet J Rare Dis. 2013 May 16; 8:74. PMID: 23679950.
    Citations: 11     Fields:    Translation:Humans
  52. Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel A, Connell F, Kalidas K, Jeffery S, Mortimer PS, Mansour S, Schulte-Merker S, Ostergaard P. Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. Circ Res. 2013 Mar 15; 112(6):956-60. PMID: 23410910.
    Citations: 49     Fields:    Translation:HumansAnimals
  53. Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis. J Invest Dermatol. 2013 Jul; 133(7):1904-7. PMID: 23358093.
    Citations: 27     Fields:    Translation:HumansCells
  54. Setta-Kaffetzi N, Navarini AA, Patel VM, Pullabhatla V, Pink AE, Choon SE, Allen MA, Burden AD, Griffiths CE, Seyger MM, Kirby B, Trembath RC, Simpson MA, Smith CH, Capon F, Barker JN. Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. J Invest Dermatol. 2013 May; 133(5):1366-9. PMID: 23303454.
    Citations: 47     Fields:    Translation:Humans
  55. Pink AE, Simpson MA, Desai N, Trembath RC, Barker JNW. ?-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis. J Invest Dermatol. 2013 Mar; 133(3):601-607. PMID: 23096707.
    Citations: 37     Fields:    Translation:HumansAnimals
  56. Jones WD, Dafou D, McEntagart M, Woollard WJ, Elmslie FV, Holder-Espinasse M, Irving M, Saggar AK, Smithson S, Trembath RC, Deshpande C, Simpson MA. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet. 2012 Aug 10; 91(2):358-64. PMID: 22795537.
    Citations: 97     Fields:    Translation:HumansCells
  57. Pink AE, Simpson MA, Desai N, Dafou D, Hills A, Mortimer P, Smith CH, Trembath RC, Barker JNW. Mutations in the ?-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). J Invest Dermatol. 2012 Oct; 132(10):2459-2461. PMID: 22622421.
    Citations: 28     Fields:    Translation:Humans
  58. Christodoulou K, Wiskin AE, Gibson J, Tapper W, Willis C, Afzal NA, Upstill-Goddard R, Holloway JW, Simpson MA, Beattie RM, Collins A, Ennis S. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut. 2013 Jul; 62(7):977-84. PMID: 22543157.
    Citations: 61     Fields:    Translation:Humans
  59. Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):290-4. PMID: 22265017.
    Citations: 41     Fields:    Translation:HumansAnimalsCells
  60. Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011 Sep 09; 89(3):432-7. PMID: 21839423.
    Citations: 143     Fields:    Translation:Humans
  61. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011 May 13; 88(5):574-85. PMID: 21565291.
    Citations: 37     Fields:    Translation:HumansCells
  62. Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011 Mar 06; 43(4):303-5. PMID: 21378985.
    Citations: 137     Fields:    Translation:HumansCells
  63. Davis OS, Butcher LM, Docherty SJ, Meaburn EL, Curtis CJ, Simpson MA, Schalkwyk LC, Plomin R. A three-stage genome-wide association study of general cognitive ability: hunting the small effects. Behav Genet. 2010 Nov; 40(6):759-67. PMID: 20306291.
    Citations: 39     Fields:    Translation:Humans
  64. Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003 Nov; 73(5):1147-56. PMID: 14564668.
    Citations: 47     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.